NAM
MCID: STC018
MIFTS: 27

Stac3 Disorder (NAM)

Categories: Bone diseases, Cancer diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Stac3 Disorder

MalaCards integrated aliases for Stac3 Disorder:

Name: Stac3 Disorder 25 20 43
Bailey-Bloch Congenital Myopathy 20 29 6
Native American Myopathy 25 20 43
Myopathy, Congenital, with Myopathic Facies, Scoliosis, and Malignant Hyperthermia 43
Congenital Myopathy with Myopathic Facies, Scoliosis, and Malignant Hyperthermia 20
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome 20
Congenital Myopathy - Cleft Palate - Malignant Hyperthermia 20
Congenital Myopathy Cleft Palate and Malignant Hyperthermia 20
Myopathy, Congenital, Bailey-Bloch 43
Nam 43

Classifications:



Summaries for Stac3 Disorder

MedlinePlus Genetics : 43 STAC3 disorder (formerly known as Native American myopathy) is a condition that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with STAC3 disorder have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body that typically begins at birth.Muscle weakness underlies many of the characteristic features of STAC3 disorder. Affected individuals may have feeding and swallowing difficulties in infancy. They usually have delayed development of motor skills such as sitting, crawling, standing, and walking. Many have facial features described as "myopathic facies", which include drooping eyelids (ptosis), sunken cheeks, and a mouth often held in an open position and with the corners turned downward. Other distinctive facial features in people with STAC3 disorder can include a small lower jaw (micrognathia), an opening in the roof of the mouth (cleft palate), low-set ears that slant backward, eye openings that are shorter than average or that point downward (short or downslanting palpebral fissures), or an increased distance between the inner corners of the eyes (ocular telecanthus).Individuals with STAC3 disorder may also be born with joint deformities that restrict movement (contractures) or develop an abnormal side-to-side or back-to-front curvature of the spine (scoliosis or kyphosis, often called kyphoscoliosis when they occur together). Affected individuals tend to be shorter than their peers and others in their family.People with STAC3 disorder also have an increased risk of developing a severe reaction to certain drugs used during surgery and other invasive procedures. This reaction is called malignant hyperthermia. Malignant hyperthermia occurs in response to some anesthetic drugs, which are used to block the sensation of pain, either given alone or in combination with a particular type of muscle relaxant. If given these drugs, people at risk of malignant hyperthermia may experience muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever (hyperthermia), increased acid levels in the blood and other tissues (acidosis), and a rapid heart rate. The complications of malignant hyperthermia can be life-threatening unless the drugs are stopped and the symptoms are treated promptly.

MalaCards based summary : Stac3 Disorder, also known as bailey-bloch congenital myopathy, is related to necrotizing autoimmune myopathy and malignant hyperthermia. An important gene associated with Stac3 Disorder is STAC3 (SH3 And Cysteine Rich Domain 3). Affiliated tissues include eye, lung and kidney.

GARD : 20 STAC3 Disorder is a genetic condition that affects the muscles and skeleton. The main features are muscle weakness present at birth, club foot, fixed joints (joint contractures ), and curvature of the spine. The symptoms of this condition vary. The most severe complications can include feeding and breathing difficulties. Many people with this condition are at risk to have complications under general anesthesia ( malignant hyperthermia ). Muscle weakness may get slowly worse over time or stay the same. Most people with STAC3 disorders are shorter than average and have normal intelligence. This condition is caused by genetic alterations in the STAC3 gene and is inherited in an autosomal recessive pattern. STAC3 disorder is diagnosed based on the symptoms and confirmed by genetic testing. Treatment is based on managing the symptoms.

Wikipedia : 73 SH3 and cysteine-rich domain-containing protein 3 is a protein that in humans is encoded by the STAC3... more...

GeneReviews: NBK542808

Related Diseases for Stac3 Disorder

Diseases related to Stac3 Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 166)
# Related Disease Score Top Affiliating Genes
1 necrotizing autoimmune myopathy 11.5
2 malignant hyperthermia 11.0
3 mycobacterium tuberculosis 1 10.4
4 avian influenza 10.3
5 cleft lip 10.3
6 cleft lip/palate 10.3
7 influenza 10.3
8 japanese encephalitis 10.2
9 encephalitis 10.2
10 trachoma 10.2
11 malaria 10.1
12 mouth disease 10.1
13 disease by infectious agent 10.1
14 typhoid fever 10.1
15 hepatitis b 10.1
16 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
17 yemenite deaf-blind hypopigmentation syndrome 10.0
18 hand, foot and mouth disease 10.0
19 tetanus 10.0
20 diphtheria 10.0
21 iron metabolism disease 10.0
22 pulmonary tuberculosis 10.0
23 poliomyelitis 10.0
24 cleft palate, isolated 10.0
25 batten-turner congenital myopathy 10.0
26 myopathy, congenital, bailey-bloch 10.0
27 scoliosis 10.0
28 ptosis 10.0
29 myopathy 10.0
30 malignant hyperthermia susceptibility 10.0
31 dengue virus 10.0
32 exanthem 10.0
33 dengue disease 10.0
34 ancylostomiasis 10.0
35 plasmodium falciparum malaria 10.0
36 hepatitis 10.0
37 leptospirosis 10.0
38 multidrug-resistant tuberculosis 10.0
39 measles 10.0
40 metagonimiasis 10.0
41 meningitis 10.0
42 head injury 10.0
43 autosomal recessive disease 10.0
44 clubfoot 10.0
45 congenital amyoplasia 10.0
46 alcohol dependence 9.9
47 papillomatosis, confluent and reticulated 9.9
48 leprosy 3 9.9
49 cervical cancer 9.9
50 body mass index quantitative trait locus 1 9.9

Graphical network of the top 20 diseases related to Stac3 Disorder:



Diseases related to Stac3 Disorder

Symptoms & Phenotypes for Stac3 Disorder

Drugs & Therapeutics for Stac3 Disorder

Search Clinical Trials , NIH Clinical Center for Stac3 Disorder

Genetic Tests for Stac3 Disorder

Genetic tests related to Stac3 Disorder:

# Genetic test Affiliating Genes
1 Bailey-Bloch Congenital Myopathy 29 STAC3

Anatomical Context for Stac3 Disorder

MalaCards organs/tissues related to Stac3 Disorder:

40
Eye, Lung, Kidney, Skeletal Muscle, Brain, Liver, Breast

Publications for Stac3 Disorder

Articles related to Stac3 Disorder:

(show all 26)
# Title Authors PMID Year
1
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy. 61 25 6
28411587 2017
2
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. 25 6 61
28777491 2017
3
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. 6 25 61
23736855 2013
4
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. 6 25
30168660 2018
5
Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. 25 61
18843099 2008
6
Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. 25 61
18553514 2008
7
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy. 25
30065953 2018
8
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. 25
29560417 2018
9
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. 25
28681861 2017
10
De novo mutations in PLXND1 and REV3L cause Möbius syndrome. 25
26068067 2015
11
Consensus statement on standard of care for congenital myopathies. 25
22431881 2012
12
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 25
21514828 2011
13
King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. 25
18765655 2008
14
Neurological disorders. The mystery of the missing smile. 25
17495152 2007
15
Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome? 25
3245876 1988
16
Malignant hyperthermia in a three-month-old American Indian infant. 25
3631569 1987
17
The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. 25
7131178 1982
18
Anesthetic-induced malignant hyperpyrexia in children. 25
4149045 1973
19
Multiple Sequence Variants in STAC3 Affect Interactions with CaV1.1 and Excitation-Contraction Coupling. 61
32492370 2020
20
Skeletal muscle CaV1.1 channelopathies. 61
32222817 2020
21
STAC3 Disorder 61
31219695 2019
22
Malignant Hyperthermia. 61
31040503 2019
23
Structural insights into binding of STAC proteins to voltage-gated calcium channels. 61
29078335 2017
24
STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads. 61
28112192 2017
25
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. 61
28003463 2017
26
Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation. 61
27621462 2016

Variations for Stac3 Disorder

ClinVar genetic disease variations for Stac3 Disorder:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAC3 NM_145064.3(STAC3):c.851G>C (p.Trp284Ser) SNV Pathogenic 88744 rs140291094 GRCh37: 12:57638105-57638105
GRCh38: 12:57244322-57244322
2 STAC3 NM_145064.3(STAC3):c.383_399del (p.His128fs) Deletion Pathogenic 465659 rs1555194630 GRCh37: 12:57642522-57642538
GRCh38: 12:57248739-57248755
3 STAC3 NM_145064.3(STAC3):c.862A>T (p.Lys288Ter) SNV Pathogenic 425007 rs371720347 GRCh37: 12:57638005-57638005
GRCh38: 12:57244222-57244222
4 STAC3 NM_145064.3(STAC3):c.432+4A>T SNV Pathogenic 425008 rs751033943 GRCh37: 12:57642485-57642485
GRCh38: 12:57248702-57248702
5 STAC3 NM_145064.3(STAC3):c.761_762CT[1] (p.Leu255fs) Microsatellite Pathogenic 559850 rs773050511 GRCh37: 12:57638360-57638363
GRCh38: 12:57244577-57244580
6 STAC3 NM_145064.3(STAC3):c.997-1G>T SNV Pathogenic 691283 rs779483367 GRCh37: 12:57637694-57637694
GRCh38: 12:57243911-57243911
7 STAC3 NM_145064.3(STAC3):c.997-1G>C SNV Conflicting interpretations of pathogenicity 639920 rs779483367 GRCh37: 12:57637694-57637694
GRCh38: 12:57243911-57243911
8 STAC3 NM_145064.3(STAC3):c.170G>T (p.Gly57Val) SNV Uncertain significance 644215 rs1027548586 GRCh37: 12:57642988-57642988
GRCh38: 12:57249205-57249205
9 STAC3 NM_145064.3(STAC3):c.26C>A (p.Ser9Tyr) SNV Uncertain significance 644689 rs775388111 GRCh37: 12:57643394-57643394
GRCh38: 12:57249611-57249611
10 STAC3 NM_145064.3(STAC3):c.574C>T (p.Arg192Trp) SNV Uncertain significance 646124 rs1202021365 GRCh37: 12:57640616-57640616
GRCh38: 12:57246833-57246833
11 STAC3 NM_145064.3(STAC3):c.473G>A (p.Ser158Asn) SNV Uncertain significance 646361 rs1592247209 GRCh37: 12:57641941-57641941
GRCh38: 12:57248158-57248158
12 STAC3 NM_145064.3(STAC3):c.895A>G (p.Asn299Asp) SNV Uncertain significance 647235 rs754269738 GRCh37: 12:57637972-57637972
GRCh38: 12:57244189-57244189
13 STAC3 NM_145064.3(STAC3):c.280G>A (p.Asp94Asn) SNV Uncertain significance 649373 rs368386121 GRCh37: 12:57642878-57642878
GRCh38: 12:57249095-57249095
14 STAC3 NM_145064.3(STAC3):c.941C>T (p.Thr314Met) SNV Uncertain significance 661534 rs146430404 GRCh37: 12:57637926-57637926
GRCh38: 12:57244143-57244143
15 STAC3 NM_145064.3(STAC3):c.560T>A (p.Met187Lys) SNV Uncertain significance 522766 rs1461373398 GRCh37: 12:57640630-57640630
GRCh38: 12:57246847-57246847
16 STAC3 NM_145064.3(STAC3):c.259G>A (p.Asp87Asn) SNV Uncertain significance 534096 rs776406787 GRCh37: 12:57642899-57642899
GRCh38: 12:57249116-57249116
17 STAC3 NM_145064.3(STAC3):c.987G>T (p.Lys329Asn) SNV Uncertain significance 534097 rs1445308443 GRCh37: 12:57637880-57637880
GRCh38: 12:57244097-57244097
18 STAC3 NM_145064.3(STAC3):c.195_200GGAAGA[2] (p.Glu75_Glu76del) Microsatellite Uncertain significance 534098 rs747619441 GRCh37: 12:57642946-57642951
GRCh38: 12:57249163-57249168
19 STAC3 NM_145064.3(STAC3):c.251T>G (p.Leu84Arg) SNV Uncertain significance 534099 rs201754072 GRCh37: 12:57642907-57642907
GRCh38: 12:57249124-57249124
20 STAC3 NM_145064.3(STAC3):c.221A>G (p.Glu74Gly) SNV Uncertain significance 534100 rs199716296 GRCh37: 12:57642937-57642937
GRCh38: 12:57249154-57249154
21 STAC3 NM_145064.3(STAC3):c.195_200GGAAGA[4] (p.Glu75_Glu76dup) Microsatellite Uncertain significance 565591 rs747619441 GRCh37: 12:57642945-57642946
GRCh38: 12:57249162-57249163
22 STAC3 NM_145064.3(STAC3):c.1052G>T (p.Arg351Leu) SNV Uncertain significance 568460 rs762866281 GRCh37: 12:57637638-57637638
GRCh38: 12:57243855-57243855
23 STAC3 NM_145064.3(STAC3):c.347T>G (p.Phe116Cys) SNV Uncertain significance 568539 rs1565783065 GRCh37: 12:57642574-57642574
GRCh38: 12:57248791-57248791
24 STAC3 NM_145064.3(STAC3):c.739C>T (p.Gln247Ter) SNV Uncertain significance 577652 rs1202215410 GRCh37: 12:57638387-57638387
GRCh38: 12:57244604-57244604
25 STAC3 NM_145064.3(STAC3):c.806C>T (p.Pro269Leu) SNV Uncertain significance 578220 rs367590066 GRCh37: 12:57638320-57638320
GRCh38: 12:57244537-57244537
26 STAC3 NM_145064.3(STAC3):c.299C>T (p.Pro100Leu) SNV Uncertain significance 582541 rs1176692820 GRCh37: 12:57642859-57642859
GRCh38: 12:57249076-57249076
27 STAC3 NM_145064.3(STAC3):c.157G>A (p.Val53Met) SNV Uncertain significance 465658 rs141938531 GRCh37: 12:57643001-57643001
GRCh38: 12:57249218-57249218
28 STAC3 NM_145064.3(STAC3):c.487G>A (p.Ala163Thr) SNV Uncertain significance 465660 rs1555194487 GRCh37: 12:57641927-57641927
GRCh38: 12:57248144-57248144
29 STAC3 NM_145064.3(STAC3):c.424G>A (p.Gly142Ser) SNV Uncertain significance 835014 GRCh37: 12:57642497-57642497
GRCh38: 12:57248714-57248714
30 STAC3 NM_145064.3(STAC3):c.187A>G (p.Ile63Val) SNV Uncertain significance 837180 GRCh37: 12:57642971-57642971
GRCh38: 12:57249188-57249188
31 STAC3 NM_145064.3(STAC3):c.554T>C (p.Val185Ala) SNV Uncertain significance 838703 GRCh37: 12:57640636-57640636
GRCh38: 12:57246853-57246853
32 STAC3 NM_145064.3(STAC3):c.963C>T (p.Arg321=) SNV Uncertain significance 838844 GRCh37: 12:57637904-57637904
GRCh38: 12:57244121-57244121
33 STAC3 NM_145064.3(STAC3):c.170G>C (p.Gly57Ala) SNV Uncertain significance 839242 GRCh37: 12:57642988-57642988
GRCh38: 12:57249205-57249205
34 STAC3 NM_145064.3(STAC3):c.517C>T (p.Arg173Cys) SNV Uncertain significance 839245 GRCh37: 12:57640673-57640673
GRCh38: 12:57246890-57246890
35 STAC3 NM_145064.3(STAC3):c.440G>A (p.Gly147Asp) SNV Uncertain significance 841235 GRCh37: 12:57641974-57641974
GRCh38: 12:57248191-57248191
36 STAC3 NM_145064.3(STAC3):c.935G>A (p.Arg312His) SNV Uncertain significance 846331 GRCh37: 12:57637932-57637932
GRCh38: 12:57244149-57244149
37 STAC3 NM_145064.3(STAC3):c.636G>C (p.Glu212Asp) SNV Uncertain significance 849720 GRCh37: 12:57638962-57638962
GRCh38: 12:57245179-57245179
38 STAC3 NM_145064.3(STAC3):c.1022C>T (p.Ala341Val) SNV Uncertain significance 851418 GRCh37: 12:57637668-57637668
GRCh38: 12:57243885-57243885
39 STAC3 NM_145064.3(STAC3):c.978C>G (p.Ile326Met) SNV Uncertain significance 851882 GRCh37: 12:57637889-57637889
GRCh38: 12:57244106-57244106
40 STAC3 NM_145064.3(STAC3):c.583G>A (p.Gly195Arg) SNV Uncertain significance 853073 GRCh37: 12:57640607-57640607
GRCh38: 12:57246824-57246824
41 STAC3 NM_145064.3(STAC3):c.671-10C>G SNV Uncertain significance 854372 GRCh37: 12:57638758-57638758
GRCh38: 12:57244975-57244975
42 STAC3 NM_145064.3(STAC3):c.404T>C (p.Val135Ala) SNV Uncertain significance 858000 GRCh37: 12:57642517-57642517
GRCh38: 12:57248734-57248734
43 STAC3 NM_145064.3(STAC3):c.34C>G (p.Pro12Ala) SNV Uncertain significance 860705 GRCh37: 12:57643386-57643386
GRCh38: 12:57249603-57249603
44 STAC3 NM_145064.3(STAC3):c.214GAG[4] (p.Glu76del) Microsatellite Uncertain significance 947120 GRCh37: 12:57642930-57642932
GRCh38: 12:57249147-57249149
45 STAC3 NM_145064.3(STAC3):c.996+4G>A SNV Uncertain significance 947915 GRCh37: 12:57637867-57637867
GRCh38: 12:57244084-57244084
46 STAC3 NM_145064.3(STAC3):c.339C>A (p.Asn113Lys) SNV Uncertain significance 948733 GRCh37: 12:57642582-57642582
GRCh38: 12:57248799-57248799
47 STAC3 NM_145064.3(STAC3):c.962G>A (p.Arg321His) SNV Uncertain significance 952210 GRCh37: 12:57637905-57637905
GRCh38: 12:57244122-57244122
48 STAC3 NM_145064.3(STAC3):c.746C>T (p.Ser249Phe) SNV Uncertain significance 954368 GRCh37: 12:57638380-57638380
GRCh38: 12:57244597-57244597
49 STAC3 NM_145064.3(STAC3):c.491G>C (p.Cys164Ser) SNV Uncertain significance 957848 GRCh37: 12:57641923-57641923
GRCh38: 12:57248140-57248140
50 STAC3 NM_145064.3(STAC3):c.217G>C (p.Glu73Gln) SNV Uncertain significance 959765 GRCh37: 12:57642941-57642941
GRCh38: 12:57249158-57249158

Expression for Stac3 Disorder

Search GEO for disease gene expression data for Stac3 Disorder.

Pathways for Stac3 Disorder

GO Terms for Stac3 Disorder

Sources for Stac3 Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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